Zhijian Yang

机构：Ningbo University, Women's Hospital, School of Medicine, Zhejiang University, Ningbo University Affiliated Hospital · ORCID：0000-0003-3697-829X

发表论文 54 篇 · 总被引 670 次 · h-index 15

代表论文

• A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus (2019 · Journal of Molecular Neuroscience · 被引 24)
• A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy (2017 · Molecular Neurobiology · 被引 24)
• Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease (2018 · Bioscience Reports · 被引 18)
• Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy (2021 · Journal of Ophthalmology · 被引 14)
• Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1 (2018 · Journal of Molecular Neuroscience · 被引 14)
• Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma (2018 · Cellular Physiology and Biochemistry · 被引 14)